| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000265316 |
| Start |
219216381:219216381(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs777439793
|
| CDS Mutation |
c.953delG |
| AA Mutation |
p.Gly318ValfsTer9(p.G318Vfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000265316 |
| Start |
219216380:219216381(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.953dupG |
| AA Mutation |
p.Gly319TrpfsTer115(p.G319Wfs*115) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ABCB6
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265316 |
| Start |
219210465:219210465(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2267C>T |
| AA Mutation |
p.Ala756Val(p.A756V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265316 |
| Start |
219213263:219213263(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs190137939
|
| CDS Mutation |
c.1783G>A |
| AA Mutation |
p.Val595Met(p.V595M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265316 |
| Start |
219213610:219213610(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1635T>G |
| AA Mutation |
p.Asn545Lys(p.N545K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265316 |
| Start |
219213659:219213659(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1586A>G |
| AA Mutation |
p.Asp529Gly(p.D529G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265316 |
| Start |
219213295:219213295(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs145498806
|
| CDS Mutation |
c.1751G>A |
| AA Mutation |
p.Arg584His(p.R584H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265316 |
| Start |
219218138:219218138(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.536A>C |
| AA Mutation |
p.Asp179Ala(p.D179A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265316 |
| Start |
219216088:219216088(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776541657
|
| CDS Mutation |
c.1063G>A |
| AA Mutation |
p.Glu355Lys(p.E355K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000265316 |
| Start |
219214395:219214395(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777543848
|
| CDS Mutation |
c.1380C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|